Variant report

Variant	rs11910585
Chromosome Location	chr21:40110369-40110370
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10048862	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2836654	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2836655	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs717804	0.90[EUR][1000 genomes]
rs9976385	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9976432	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060405	chr21:40095523-40159813	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1057356	chr21:40103881-40147363	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv913739	chr21:40103951-40152372	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv913740	chr21:40103951-40157124	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40106400-40111800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr21:40106600-40112800	Weak transcription	Colonic Mucosa	Colon
4	chr21:40107000-40113000	Weak transcription	Primary T cells from cord blood	blood
5	chr21:40107400-40113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:40107600-40112000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr21:40108000-40113200	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr21:40108200-40111800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr21:40108200-40111800	Weak transcription	HepG2	liver
10	chr21:40108400-40111600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr21:40108400-40111600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:40108400-40111600	Weak transcription	Small Intestine	intestine
13	chr21:40108400-40111800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:40108400-40111800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr21:40108400-40111800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr21:40108400-40111800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr21:40108400-40111800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr21:40108400-40113000	Weak transcription	Dnd41	blood
19	chr21:40108600-40111600	Weak transcription	Fetal Intestine Large	intestine
20	chr21:40109000-40111600	Weak transcription	Fetal Intestine Small	intestine
21	chr21:40109800-40111800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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